SNP Links for Protein (Select 56713254) - SNP

Links from Protein

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Select item 14886096021.

rs1488609602 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:88949140 (GRCh38)
1:89414823 (GRCh37)
Canonical SPDI:: NC_000001.11:88949139:G:A
Gene:: KYAT3 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.88949140G>A, NC_000001.10:g.89414823G>A, NM_001008661.3:c.1092C>T, NM_001008661.2:c.1092C>T, NM_001008662.3:c.990C>T, NM_001008662.2:c.990C>T, NR_146184.2:n.1017C>T, NR_146184.1:n.1348C>T, NM_001349450.1:c.600C>T, NM_001349448.1:c.1092C>T, NM_001349449.1:c.600C>T, NM_001349447.1:c.990C>T, NR_146183.1:n.1257C>T, NR_146185.1:n.1193C>T

Select item 14884786872.

rs1488478687 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:88943029 (GRCh38)
1:89408712 (GRCh37)
Canonical SPDI:: NC_000001.11:88943028:C:G
Gene:: KYAT3 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.88943029C>G, NC_000001.10:g.89408712C>G, NM_001008661.3:c.1278G>C, NM_001008661.2:c.1278G>C, NM_001008662.3:c.1176G>C, NM_001008662.2:c.1176G>C, NR_146184.2:n.1203G>C, NR_146184.1:n.1534G>C, NM_001349450.1:c.786G>C, NM_001349448.1:c.1278G>C, NM_001349449.1:c.786G>C, NM_001349447.1:c.1176G>C, NR_146183.1:n.1443G>C, NR_146185.1:n.1379G>C, NP_001008661.1:p.Lys426Asn, NP_001008662.1:p.Lys392Asn, NP_001336379.1:p.Lys262Asn, NP_001336377.1:p.Lys426Asn, NP_001336378.1:p.Lys262Asn, NP_001336376.1:p.Lys392Asn

Select item 14853818423.

rs1485381842 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:88953122 (GRCh38)
1:89418805 (GRCh37)
Canonical SPDI:: NC_000001.11:88953121:T:C
Gene:: KYAT3 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.88953122T>C, NC_000001.10:g.89418805T>C, NM_001008661.3:c.895A>G, NM_001008661.2:c.895A>G, NM_001008662.3:c.793A>G, NM_001008662.2:c.793A>G, NR_146184.2:n.820A>G, NR_146184.1:n.1151A>G, NM_001349450.1:c.403A>G, NM_001349448.1:c.895A>G, NM_001349449.1:c.403A>G, NM_001349447.1:c.793A>G, NR_146183.1:n.1060A>G, NR_146185.1:n.996A>G, NP_001008661.1:p.Ile299Val, NP_001008662.1:p.Ile265Val, NP_001336379.1:p.Ile135Val, NP_001336377.1:p.Ile299Val, NP_001336378.1:p.Ile135Val, NP_001336376.1:p.Ile265Val

Select item 14851402174.

rs1485140217 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:88961416 (GRCh38)
1:89427099 (GRCh37)
Canonical SPDI:: NC_000001.11:88961415:T:C,NC_000001.11:88961415:T:G
Gene:: KYAT3 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.88961416T>C, NC_000001.11:g.88961416T>G, NC_000001.10:g.89427099T>C, NC_000001.10:g.89427099T>G, NM_001008661.3:c.631A>G, NM_001008661.3:c.631A>C, NM_001008661.2:c.631A>G, NM_001008661.2:c.631A>C, NM_001008662.3:c.529A>G, NM_001008662.3:c.529A>C, NM_001008662.2:c.529A>G, NM_001008662.2:c.529A>C, NR_146184.2:n.677A>G, NR_146184.2:n.677A>C, NR_146184.1:n.1008A>G, NR_146184.1:n.1008A>C, NM_001349450.1:c.139A>G, NM_001349450.1:c.139A>C, NM_001349448.1:c.631A>G, NM_001349448.1:c.631A>C, NM_001349449.1:c.139A>G, NM_001349449.1:c.139A>C, NM_001349447.1:c.529A>G, NM_001349447.1:c.529A>C, NR_146183.1:n.796A>G, NR_146183.1:n.796A>C, NR_146185.1:n.853A>G, NR_146185.1:n.853A>C, NP_001008661.1:p.Ile211Val, NP_001008661.1:p.Ile211Leu, NP_001008662.1:p.Ile177Val, NP_001008662.1:p.Ile177Leu, NP_001336379.1:p.Ile47Val, NP_001336379.1:p.Ile47Leu, NP_001336377.1:p.Ile211Val, NP_001336377.1:p.Ile211Leu, NP_001336378.1:p.Ile47Val, NP_001336378.1:p.Ile47Leu, NP_001336376.1:p.Ile177Val, NP_001336376.1:p.Ile177Leu

Select item 14847362015.

rs1484736201 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:88988311 (GRCh38)
1:89453994 (GRCh37)
Canonical SPDI:: NC_000001.11:88988310:T:C
Gene:: KYAT3 (Varview), RBMXL1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.88988311T>C, NC_000001.10:g.89453994T>C, NM_001162536.3:c.-300A>G, NM_001162536.2:c.-300A>G, NM_001008661.3:c.40A>G, NM_001008661.2:c.40A>G, NR_146184.2:n.86A>G, NR_146184.1:n.417A>G, NM_001349450.1:c.-610A>G, NM_001349448.1:c.40A>G, NR_146183.1:n.205A>G, NP_001008661.1:p.Arg14Gly, NP_001336377.1:p.Arg14Gly

Select item 14761167946.

rs1476116794 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:88962123 (GRCh38)
1:89427806 (GRCh37)
Canonical SPDI:: NC_000001.11:88962122:T:C
Gene:: KYAT3 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.88962123T>C, NC_000001.10:g.89427806T>C, NM_001008661.3:c.476A>G, NM_001008661.2:c.476A>G, NM_001008662.3:c.374A>G, NM_001008662.2:c.374A>G, NR_146184.2:n.522A>G, NR_146184.1:n.853A>G, NM_001349450.1:c.-17A>G, NM_001349448.1:c.476A>G, NM_001349449.1:c.-17A>G, NM_001349447.1:c.374A>G, NR_146183.1:n.641A>G, NR_146185.1:n.698A>G, NP_001008661.1:p.Tyr159Cys, NP_001008662.1:p.Tyr125Cys, NP_001336377.1:p.Tyr159Cys, NP_001336376.1:p.Tyr125Cys

Select item 14708640317.

rs1470864031 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:88949132 (GRCh38)
1:89414815 (GRCh37)
Canonical SPDI:: NC_000001.11:88949131:G:C
Gene:: KYAT3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.88949132G>C, NC_000001.10:g.89414815G>C, NM_001008661.3:c.1100C>G, NM_001008661.2:c.1100C>G, NM_001008662.3:c.998C>G, NM_001008662.2:c.998C>G, NR_146184.2:n.1025C>G, NR_146184.1:n.1356C>G, NM_001349450.1:c.608C>G, NM_001349448.1:c.1100C>G, NM_001349449.1:c.608C>G, NM_001349447.1:c.998C>G, NR_146183.1:n.1265C>G, NR_146185.1:n.1201C>G, NP_001008661.1:p.Pro367Arg, NP_001008662.1:p.Pro333Arg, NP_001336379.1:p.Pro203Arg, NP_001336377.1:p.Pro367Arg, NP_001336378.1:p.Pro203Arg, NP_001336376.1:p.Pro333Arg

Select item 14703407928.

rs1470340792 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCCCTCATC>- [Show Flanks]
Chromosome:: 1:88964835 (GRCh38)
1:89430518 (GRCh37)
Canonical SPDI:: NC_000001.11:88964829:TCATCTCCCTCATC:TCATC
Gene:: KYAT3 (Varview)
Functional Consequence:: inframe_deletion,5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCATC=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.88964835_88964843del, NC_000001.10:g.89430518_89430526del, NM_001008661.3:c.444_452del, NM_001008661.2:c.444_452del, NM_001008662.3:c.342_350del, NM_001008662.2:c.342_350del, NR_146184.2:n.490_498del, NR_146184.1:n.821_829del, NM_001349450.1:c.-206_-198del, NM_001349448.1:c.444_452del, NM_001349449.1:c.-206_-198del, NM_001349447.1:c.342_350del, NR_146183.1:n.609_617del, NR_146185.1:n.509_517del, NP_001008661.1:p.Gly149_Glu151del, NP_001008662.1:p.Gly115_Glu117del, NP_001336377.1:p.Gly149_Glu151del, NP_001336376.1:p.Gly115_Glu117del

Select item 14656809079.

rs1465680907 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:88953080 (GRCh38)
1:89418763 (GRCh37)
Canonical SPDI:: NC_000001.11:88953079:A:T
Gene:: KYAT3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.88953080A>T, NC_000001.10:g.89418763A>T, NM_001008661.3:c.937T>A, NM_001008661.2:c.937T>A, NM_001008662.3:c.835T>A, NM_001008662.2:c.835T>A, NR_146184.2:n.862T>A, NR_146184.1:n.1193T>A, NM_001349450.1:c.445T>A, NM_001349448.1:c.937T>A, NM_001349449.1:c.445T>A, NM_001349447.1:c.835T>A, NR_146183.1:n.1102T>A, NR_146185.1:n.1038T>A, NP_001008661.1:p.Cys313Ser, NP_001008662.1:p.Cys279Ser, NP_001336379.1:p.Cys149Ser, NP_001336377.1:p.Cys313Ser, NP_001336378.1:p.Cys149Ser, NP_001336376.1:p.Cys279Ser

Select item 146423401910.

rs1464234019 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:88968752 (GRCh38)
1:89434435 (GRCh37)
Canonical SPDI:: NC_000001.11:88968751:T:C
Gene:: KYAT3 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.88968752T>C, NC_000001.10:g.89434435T>C, NM_001008661.3:c.221A>G, NM_001008661.2:c.221A>G, NM_001008662.3:c.119A>G, NM_001008662.2:c.119A>G, NR_146184.2:n.267A>G, NR_146184.1:n.598A>G, NM_001349450.1:c.-429A>G, NM_001349448.1:c.221A>G, NM_001349449.1:c.-429A>G, NM_001349447.1:c.119A>G, NR_146183.1:n.386A>G, NR_146185.1:n.286A>G, NP_001008661.1:p.Asp74Gly, NP_001008662.1:p.Asp40Gly, NP_001336377.1:p.Asp74Gly, NP_001336376.1:p.Asp40Gly

Select item 146412989711.

rs1464129897 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:88943374 (GRCh38)
1:89409057 (GRCh37)
Canonical SPDI:: NC_000001.11:88943373:A:G
Gene:: KYAT3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.88943374A>G, NC_000001.10:g.89409057A>G, NM_001008661.3:c.1191T>C, NM_001008661.2:c.1191T>C, NM_001008662.3:c.1089T>C, NM_001008662.2:c.1089T>C, NR_146184.2:n.1116T>C, NR_146184.1:n.1447T>C, NM_001349450.1:c.699T>C, NM_001349448.1:c.1191T>C, NM_001349449.1:c.699T>C, NM_001349447.1:c.1089T>C, NR_146183.1:n.1356T>C, NR_146185.1:n.1292T>C

Select item 146237723012.

rs1462377230 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:88936210 (GRCh38)
1:89401893 (GRCh37)
Canonical SPDI:: NC_000001.11:88936209:G:C
Gene:: KYAT3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.88936210G>C, NC_000001.10:g.89401893G>C, NM_001008661.3:c.1338C>G, NM_001008661.2:c.1338C>G, NM_001008662.3:c.1236C>G, NM_001008662.2:c.1236C>G, NR_146184.2:n.1263C>G, NR_146184.1:n.1594C>G, NM_001349450.1:c.846C>G, NM_001349448.1:c.1338C>G, NM_001349449.1:c.846C>G, NM_001349447.1:c.1236C>G, NR_146183.1:n.1503C>G, NR_146185.1:n.1439C>G, NP_001008661.1:p.Ile446Met, NP_001008662.1:p.Ile412Met, NP_001336379.1:p.Ile282Met, NP_001336377.1:p.Ile446Met, NP_001336378.1:p.Ile282Met, NP_001336376.1:p.Ile412Met

Select item 145967100813.

rs1459671008 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:88949171 (GRCh38)
1:89414854 (GRCh37)
Canonical SPDI:: NC_000001.11:88949170:A:C
Gene:: KYAT3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.006004/11 (Korea1K)
HGVS:: NC_000001.11:g.88949171A>C, NC_000001.10:g.89414854A>C, NM_001008661.3:c.1061T>G, NM_001008661.2:c.1061T>G, NM_001008662.3:c.959T>G, NM_001008662.2:c.959T>G, NR_146184.2:n.986T>G, NR_146184.1:n.1317T>G, NM_001349450.1:c.569T>G, NM_001349448.1:c.1061T>G, NM_001349449.1:c.569T>G, NM_001349447.1:c.959T>G, NR_146183.1:n.1226T>G, NR_146185.1:n.1162T>G, NP_001008661.1:p.Val354Gly, NP_001008662.1:p.Val320Gly, NP_001336379.1:p.Val190Gly, NP_001336377.1:p.Val354Gly, NP_001336378.1:p.Val190Gly, NP_001336376.1:p.Val320Gly

Select item 145947909514.

rs1459479095 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:88936195 (GRCh38)
1:89401878 (GRCh37)
Canonical SPDI:: NC_000001.11:88936194:T:G
Gene:: KYAT3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.88936195T>G, NC_000001.10:g.89401878T>G, NM_001008661.3:c.1353A>C, NM_001008661.2:c.1353A>C, NM_001008662.3:c.1251A>C, NM_001008662.2:c.1251A>C, NR_146184.2:n.1278A>C, NR_146184.1:n.1609A>C, NM_001349450.1:c.861A>C, NM_001349448.1:c.1353A>C, NM_001349449.1:c.861A>C, NM_001349447.1:c.1251A>C, NR_146183.1:n.1518A>C, NR_146185.1:n.1454A>C

Select item 145758887115.

rs1457588871 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:88988263 (GRCh38)
1:89453946 (GRCh37)
Canonical SPDI:: NC_000001.11:88988262:A:G
Gene:: KYAT3 (Varview), RBMXL1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.88988263A>G, NC_000001.10:g.89453946A>G, NM_001162536.3:c.-252T>C, NM_001162536.2:c.-252T>C, NM_001008661.3:c.88T>C, NM_001008661.2:c.88T>C, NR_146184.2:n.134T>C, NR_146184.1:n.465T>C, NM_001349450.1:c.-562T>C, NM_001349448.1:c.88T>C, NR_146183.1:n.253T>C, NP_001008661.1:p.Ser30Pro, NP_001336377.1:p.Ser30Pro

Select item 145428411616.

rs1454284116 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:88961466 (GRCh38)
1:89427149 (GRCh37)
Canonical SPDI:: NC_000001.11:88961465:G:A
Gene:: KYAT3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.88961466G>A, NC_000001.10:g.89427149G>A, NM_001008661.3:c.581C>T, NM_001008661.2:c.581C>T, NM_001008662.3:c.479C>T, NM_001008662.2:c.479C>T, NR_146184.2:n.627C>T, NR_146184.1:n.958C>T, NM_001349450.1:c.89C>T, NM_001349448.1:c.581C>T, NM_001349449.1:c.89C>T, NM_001349447.1:c.479C>T, NR_146183.1:n.746C>T, NR_146185.1:n.803C>T, NP_001008661.1:p.Thr194Ile, NP_001008662.1:p.Thr160Ile, NP_001336379.1:p.Thr30Ile, NP_001336377.1:p.Thr194Ile, NP_001336378.1:p.Thr30Ile, NP_001336376.1:p.Thr160Ile

Select item 145302374617.

rs1453023746 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:88969448 (GRCh38)
1:89435131 (GRCh37)
Canonical SPDI:: NC_000001.11:88969447:G:A,NC_000001.11:88969447:G:T
Gene:: KYAT3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.88969448G>A, NC_000001.11:g.88969448G>T, NC_000001.10:g.89435131G>A, NC_000001.10:g.89435131G>T, NM_001008661.3:c.119C>T, NM_001008661.3:c.119C>A, NM_001008661.2:c.119C>T, NM_001008661.2:c.119C>A, NM_001008662.3:c.17C>T, NM_001008662.3:c.17C>A, NM_001008662.2:c.17C>T, NM_001008662.2:c.17C>A, NR_146184.2:n.165C>T, NR_146184.2:n.165C>A, NR_146184.1:n.496C>T, NR_146184.1:n.496C>A, NM_001349450.1:c.-531C>T, NM_001349450.1:c.-531C>A, NM_001349448.1:c.119C>T, NM_001349448.1:c.119C>A, NM_001349449.1:c.-531C>T, NM_001349449.1:c.-531C>A, NM_001349447.1:c.17C>T, NM_001349447.1:c.17C>A, NR_146183.1:n.284C>T, NR_146183.1:n.284C>A, NR_146185.1:n.184C>T, NR_146185.1:n.184C>A, NP_001008661.1:p.Thr40Ile, NP_001008661.1:p.Thr40Lys, NP_001008662.1:p.Thr6Ile, NP_001008662.1:p.Thr6Lys, NP_001336377.1:p.Thr40Ile, NP_001336377.1:p.Thr40Lys, NP_001336376.1:p.Thr6Ile, NP_001336376.1:p.Thr6Lys

Select item 145253298918.

rs1452532989 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:88961251 (GRCh38)
1:89426934 (GRCh37)
Canonical SPDI:: NC_000001.11:88961250:G:A
Gene:: KYAT3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.88961251G>A, NC_000001.10:g.89426934G>A, NM_001008661.3:c.703C>T, NM_001008661.2:c.703C>T, NM_001008662.3:c.601C>T, NM_001008662.2:c.601C>T, NM_001349450.1:c.211C>T, NM_001349448.1:c.703C>T, NM_001349449.1:c.211C>T, NM_001349447.1:c.601C>T, NR_146183.1:n.868C>T, NP_001008661.1:p.Leu235Phe, NP_001008662.1:p.Leu201Phe, NP_001336379.1:p.Leu71Phe, NP_001336377.1:p.Leu235Phe, NP_001336378.1:p.Leu71Phe, NP_001336376.1:p.Leu201Phe

Select item 145213220719.

rs1452132207 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:88964844 (GRCh38)
1:89430527 (GRCh37)
Canonical SPDI:: NC_000001.11:88964843:A:C
Gene:: KYAT3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.88964844A>C, NC_000001.10:g.89430527A>C, NM_001008661.3:c.438T>G, NM_001008661.2:c.438T>G, NM_001008662.3:c.336T>G, NM_001008662.2:c.336T>G, NR_146184.2:n.484T>G, NR_146184.1:n.815T>G, NM_001349450.1:c.-212T>G, NM_001349448.1:c.438T>G, NM_001349449.1:c.-212T>G, NM_001349447.1:c.336T>G, NR_146183.1:n.603T>G, NR_146185.1:n.503T>G, NP_001008661.1:p.Ile146Met, NP_001008662.1:p.Ile112Met, NP_001336377.1:p.Ile146Met, NP_001336376.1:p.Ile112Met

Select item 145152158520.

rs1451521585 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:88949129 (GRCh38)
1:89414812 (GRCh37)
Canonical SPDI:: NC_000001.11:88949128:T:G
Gene:: KYAT3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.88949129T>G, NC_000001.10:g.89414812T>G, NM_001008661.3:c.1103A>C, NM_001008661.2:c.1103A>C, NM_001008662.3:c.1001A>C, NM_001008662.2:c.1001A>C, NR_146184.2:n.1028A>C, NR_146184.1:n.1359A>C, NM_001349450.1:c.611A>C, NM_001349448.1:c.1103A>C, NM_001349449.1:c.611A>C, NM_001349447.1:c.1001A>C, NR_146183.1:n.1268A>C, NR_146185.1:n.1204A>C, NP_001008661.1:p.Asp368Ala, NP_001008662.1:p.Asp334Ala, NP_001336379.1:p.Asp204Ala, NP_001336377.1:p.Asp368Ala, NP_001336378.1:p.Asp204Ala, NP_001336376.1:p.Asp334Ala

dbSNP

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